SynthesisAmerican journal of human genetics2012
Genome-wide linkage and association analyses implicate FASN in predisposition to Uterine Leiomyomata.
Synthesis in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 3 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.Nature communications · 2025Pooled it
- Integrating leiomyoma genetics, epigenomics, and single-cell transcriptomics reveals causal genetic variants, genes, and cell types.Nature communications · 2024Pooled it
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine fibroids.Fertility and sterility · 2015Trial
- Multinodular Hydropic Leiomyoma in a 41-Year-Old Patient: A Case Report.Journal of clinical medicine · 2025Article
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- Novel Approaches to Possible Targeted Therapies and Prophylaxis of Uterine Fibroids.Diseases (Basel, Switzerland) · 2023Review
- Endometriosis in the era of precision medicine and impact on sexual and reproductive health across the lifespan and in diverse populations.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Review
- Potential mechanism of Taohong Siwu Decoction in uterine fibroid treatment based on integrated strategy of network pharmacology and experimental verification.Chinese medicine · 2023Article
- Physiological and pathological roles of lipogenesis.Nature metabolism · 2023Review
- Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.American journal of human genetics · 2023Article
- Embolization for the treatment of large, complex fibroids in an outpatient setting: A report of 2 cases.Radiology case reports · 2023Article
- Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.Nature communications · 2023Article
- Proteomic and miRNA profiling of radon-induced skin damage in mice: FASN regulated by miRNAs.Journal of radiation research · 2022Article
- Genome-wide causal mediation analysis identifies genetic loci associated with uterine fibroids mediated by age at menarche.Human reproduction (Oxford, England) · 2022Article
- Article
- Uterine fibroids - Causes, impact, treatment, and lens to the African perspective.Frontiers in pharmacology · 2022Review
- Molecular and Cellular Insights into the Development of Uterine Fibroids.International journal of molecular sciences · 2021Review
- Significant interpopulation differentiation at candidate loci may underlie ethnic disparities in the prevalence of uterine fibroids.Journal of genetics · 2021Article
- Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 3 countries.
Funding
Abstract
Uterine leiomyomata (UL), the most prevalent pelvic tumors in women of reproductive age, pose a major public health problem given their high frequency, associated morbidities, and most common indication for hysterectomies. A genetic component to UL predisposition is supported by analyses of ethnic predisposition, twin studies, and familial aggregation. A genome-wide SNP linkage panel was genotyped and analyzed in 261 white UL-affected sister-pair families from the Finding Genes for Fibroids study. Two significant linkage regions were detected in 10p11 (LOD = 4.15) and 3p21 (LOD = 3.73), and five additional linkage regions were identified with LOD scores > 2.00 in 2q37, 5p13, 11p15, 12q14, and 17q25. Genome-wide association studies were performed in two independent cohorts of white women, and a meta-analysis was conducted. One SNP (rs4247357) was identified with a p value (p = 3.05 × 10(-8)) that reached genome-wide significance (odds ratio = 1.299). The candidate SNP is under a linkage peak and in a block of linkage disequilibrium in 17q25.3, which spans fatty acid synthase (FASN), coiled-coil-domain-containing 57 (CCDC57), and solute-carrier family 16, member 3 (SLC16A3). By tissue microarray immunohistochemistry, we found elevated (3-fold) FAS levels in UL-affected tissue compared to matched myometrial tissue. FAS transcripts and/or protein levels are upregulated in various neoplasms and implicated in tumor cell survival. FASN represents the initial UL risk allele identified in white women by a genome-wide, unbiased approach and opens a path to management and potential therapeutic intervention.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.